Zor Hava Yolu ve Pulmoner Hipertansiyon Birlikteliği olan I-Cell Hastalığı Olgusu

Year 2016, Volume: 69 Issue: 1, 41 - 43, 03.06.2016

Ayhan Yaman

Abstract

I-cell hastalığı (mukolidipoz tip 2) otozomal resesif kaltımlı, çocukluk yaş grubunda çoğunlukla solunum yetmezliğine bağlı ölümcül seyredebilen lizozomal enzim bozukluğudur. Hastalığınn en sık görülen bulguları mental ve motor retardasyon ile birlikte tipik orofasiyal anomalilerdir. Tipik kardiyak bulguları mitral kapak kalınlaşması, aortik kapak kalınlaşması, hipertrofik ve dilate kardiyomiyopatidir. Mukopolisakkaridozlar pediatrik anestezide görülen en zor hava yolu problemleri olarak tanımlanmaktadır ve bunu teyit eden daha önce yayınlanmış birçok yayında hava yolu problemlerinin yüksek olduğu bildirilmiştir. Bu çalışmada I-cell hastalığı (mukolidipoz tip 2) tanısı alan, zor hava yolu ve bu hastalıkla birlikte nadir bildirilen ağır pulmoner hipertansiyonu olan bir bebek sunulmuştur.

Keywords

Çocuk, Pulmoner hipertansiyon, Zor hava yolu., I-cell hastalığı

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Difficult Airway and Pulmonary Hypertension Coexistence in a Child With I-Cell Disease

Abstract

I-cell disease (mucolipidosis type II) is an autosomal recessive lysosomal enzyme targeting disorder leading to fatal outcome in childhood mostly due to respiratory insufficiency. The most common features of the condition are mental and physical retardation with typical orofacial features. Typical cardiac involvement includes thickening and deformation of mitral and aortic valves and dilated or hypertrophic cardiomyopathy. Mucopolysaccharidoses have been described as the worst airway problems in pediatric anesthesia, and there have been a number of previous reviews that have demonstrated a high incidence of airway problems. Here, we report the clinical course of an infant with confirmed I-cell disease (mucolipidosis type II) complicated by difficult airway and severe pulmonary hypertension, which is very rarely associated with this disorder.

Keywords

Children, Difficult Airway, I-cell Disease, Pulmonary Hypertension.

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References

• 1. Neufeld EF, McKusick VA. Disorders of Lysosomal Enzyme Synthesis and Localization. I-cell Disease and Pseudo- Hurler Polydystrophy. In: Stanbury JB (eds). The Metabolic Basis of Inherited Diseases. McGraw-Hill, New York, 1983; 778–787.
• 2. Spitz RA, Doughty RA, Spackman TJ et al.Neonatal Presentation of I-Cell Disease. Journal of Paediatrics 1978; 93: 954–958.
• 3. Okada S, Owada M, Sakiyama T et al. ICell Disease: Clinical Studies of 21 Japanese Cases. Clin Genet 1985; 28: 207.
• 4. Satoh Y, Sakamoto K, Fujibayashi Y et al. Cardiac Involvement In Mucolipidosis: Importance Of Non-Invasive Studies For Detection Of Cardiac Abnormalities. Jpn Heart J. 1983; 24: 149.
• 5.Smith RM. Anaesthesia for infants and children, 4th edn. St Louis, MO: C.V. Mosby Co, 1980: 533–536.
• 6. Moores C, Rogers JG, McKenzie IM et al. Anaesthesia for children with mucopolysaccharidoses. Anaesth Intensive Care 1996; 24:259–463.
• 7. Walker RW, Darowski M, Morris P, et al. Anaesthesia and mucopolysaccharidoses. A review of airway problems in children. Anaesthesia 1994; 49: 1078–1084.
• 8. Baines D, Keneally J. Anaesthetic Implications of The Mucopolysaccharidoses: A fteen-Year Experience In A Children’s Hospital. Anaesth Intensive Care 1983; 11: 198–202.
• 9. Leroy JG, DeMars RI. Mutant enzymatic and cytological phenotypes in cultured human fibroblasts. Science 1967; 157: 804–806.
• 10. Carey WF, Jauzems A, Richardson M, et al. Prenatal diagnosis of mucolipidosiselectron microscopy and biochemical evaluation. Prenatal Diagnosis 1999: 252– 256.
• 11. Leal GN, de Paula AC, Leone C, et al. Echocardiographic study of paediatric patients with mucopolysaccharidosis. Cardiol Young. 2010; 20: 254-261.
• 12. Kovacevic A, Schranz D, Meissner T, et al. Mucolipidosis II complicated by severe pulmonary hypertension. Mol Genet Metab. 2011; 104: 192-193.
• 13. Alfadhel M, AlShehhi W, Alshaalan H, Al Balwi M, Eyaida W. mucolipidosis II: First report from Saudi Arabia. Ann Saudi Med. 2013; 33:382-386.
• 14. Ishak M, Zambrano EV, Bazzy-Asaad A, et al. Unusual pulmonary findings in mucolipidosis II. Pediatr Pulmonol. 2012; 47: 719-721.
• 15. Kendirli T, Ince E, Kavaz A, et al. Difficult intubation of a child through laryngeal mask airway with two tracheal tubes. Acta Paediatr. 2006; 95: 1688-1690.
• 16. Caplan RA, Benumof JL, Berry FA, et al: Practice guidelines for management of the difficult airway. A report by the American Society of Anesthesiologists Task Force for the management of the difficult airway. Anesthesiology 1993; 78: 597–602.
• 17. Kurachek SC, Newth CJ, Quasney MW, et al: Extubation failure in pediatric intensive care: A multiple-center study of risk factors and outcomes. Crit Care Med 2003; 31: 2657–2664.
• 18. Cooper RN. Extubation and changing endotracheal tubes. In: Benumof JL (eds). Airway Management: Principles And Practice. Mosby, Chicago, 1995; 864-883.